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Mutation Report for: 14kbdel_human-ABHD12

14kbdel_human-ABHD12
Gene_Locus|human-ABHD12
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|Large deletion Homozygous Emiraties. 14 kb deletion. eliminates exon1 and 5' UTR
    Kinetic parameters|none


    References:
      Title: Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
      Fiskerstrand T, H'Mida-Ben Brahim D, Johansson S, M'Zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C and Knappskog PM <9 more author(s)>
      Ref: American Journal of Human Genetics, 87:410, 2010 : PubMed

              




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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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